A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2492



Internal ID15200369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:41096554..41131195hg38UCSC Ensembl
Outerchr19:41602459..41637100hg19UCSC Ensembl
Outerchr19:46294299..46328940hg18UCSC Ensembl
Outerchr19:46294299..46328940hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg385384
hg195384
hg185384
hg175384
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5749, nssv2998
SamplesNA19129, NA18555
Known GenesCYP2F1
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv2492
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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